Loss‐of‐Function Variants in <scp> <i>CPT1C</i> </scp> : No Support for a Causal Role in Hereditary Spastic Paraplegia
Our study does not support a causal role for CPT1C LOF variants in HSP. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Guy Armand Rouleau (ORCID: https://orcid.org/0000-0001-8403-1418)
- Albena Jordanova (ORCID: https://orcid.org/0000-0002-0113-3986)
- Giovanni Stévanin (ORCID: https://orcid.org/0000-0001-9368-8657)
- Farnaz Asayesh
- Mehrdad A. Estiar (ORCID: https://orcid.org/0000-0002-1579-6342)
- Mark A. Tarnopolsky (ORCID: https://orcid.org/0000-0003-0312-3746)
- Patrick A. Dion (ORCID: https://orcid.org/0000-0002-2099-954X)
- Kym M. Boycott (ORCID: https://orcid.org/0000-0003-4186-8052)
- Yi‐Chung Lee (ORCID: https://orcid.org/0000-0003-0102-164X)
- Nicolas Dupré (ORCID: https://orcid.org/0000-0001-7270-6115)
- Ziv Gan‐Or (ORCID: https://orcid.org/0000-0003-0332-234X)
- Rui Zhu (ORCID: https://orcid.org/0000-0003-1442-8502)
- Jamil Ahmad (ORCID: https://orcid.org/0000-0002-0320-4020)
- Grace Yoon (ORCID: https://orcid.org/0000-0002-0415-4416)
- Oksana Suchowersky
- Stephan Züchner (ORCID: https://orcid.org/0000-0001-5669-7415)
- Lang Liu (ORCID: https://orcid.org/0009-0007-8868-701X)
- Meron Teferra
Institutions
- Broad Institute (US)
- Montreal Neurological Institute and Hospital (CA)
- Centre National de la Recherche Scientifique (FR)
- University of Miami (US)
- National Yang Ming Chiao Tung University (TW)
- University of Antwerp (BE)
- Université de Bordeaux (FR)
- University of Ottawa (CA)
- University of Alberta (CA)
- École Pratique des Hautes Études (FR)
- University of Toronto (CA)
- Children's Hospital of Eastern Ontario (CA)
- Taipei Veterans General Hospital (TW)
- Medical University of Sofia (BG)
- National Yang Ming University Hospital (TW)
- Dr. John T. Macdonald Foundation (US)
- VIB-UAntwerp Center for Molecular Neurology (BE)
- Université Laval (CA)
- McGill University (CA)
- National Yang Ming Chiao Tung University (TW)
- McMaster University (CA)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-11-28
- DOI
- https://doi.org/10.1002/mds.70144
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Alnylam Pharmaceuticals
- Université Laval
- McGill University
- Amicus Therapeutics
- Agence Nationale de la Recherche
- Centre Hospitalier Universitaire de Québec
- Université de Bordeaux
- Campus France
- Canada First Research Excellence Fund
- Idorsia Pharmaceuticals
- Canadian Institutes of Health Research
- Fonds de Recherche du Québec - Santé